Variant report

Variant	rs12730098
Chromosome Location	chr1:212427488-212427489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212422550..212424543-chr1:212427394..212429711,2	K562	blood:
2	chr1:212427390..212429185-chr1:212456996..212458799,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10494951	0.95[AFR][1000 genomes]
rs10863960	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863961	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119899	0.98[ASN][1000 genomes]
rs11576437	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11579999	0.88[ASN][1000 genomes]
rs11580285	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585215	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11589817	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12064553	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12066356	0.98[ASN][1000 genomes]
rs12096035	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12722832	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727947	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728266	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12743785	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12745269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12746203	0.95[AFR][1000 genomes]
rs12747025	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493600	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1530451	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17721302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358448	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34212128	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34244392	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34447409	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34740542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35872305	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55814152	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6661987	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6667199	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71646153	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7521041	0.98[ASN][1000 genomes]
rs7531219	0.98[ASN][1000 genomes]
rs968531	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs968532	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12730098	RP11-15I11.3	cis	lung	GTEx
rs12730098	RP11-15I11.3	cis	Adipose Subcutaneous	GTEx
rs12730098	RP11-15I11.3	cis	Nerve Tibial	GTEx
rs12730098	RP11-15I11.3	cis	Thyroid	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:212421600-212428400	Weak transcription	Right Ventricle	heart
4	chr1:212421800-212427600	Weak transcription	Liver	Liver
5	chr1:212423600-212431200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:212424200-212428200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:212424200-212428600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:212424200-212429000	Weak transcription	Stomach Mucosa	stomach
9	chr1:212424400-212430800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:212424400-212431200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:212424600-212431000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:212425000-212427600	Enhancers	Primary T cells from cord blood	blood
13	chr1:212425000-212428200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:212425000-212428200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:212425200-212427600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:212425200-212428200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:212425400-212427600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:212425600-212428000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:212425800-212427600	Enhancers	Dnd41	blood
20	chr1:212426400-212429000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:212426600-212430800	Enhancers	Fetal Thymus	thymus
22	chr1:212427200-212427600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:212427200-212428200	Enhancers	Primary B cells from cord blood	blood
24	chr1:212427400-212427600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:212427400-212428200	Enhancers	HepG2	liver
26	chr1:212427400-212428800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:212427400-212429600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:212427400-212429800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:212427400-212430400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:212427400-212430800	Enhancers	Primary B cells from peripheral blood	blood

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